5,322 results match your criteria Erythropoietic Protoporphyria


Hemin induces autophagy in a leukemic erythroblast cell line through the LRP1 receptor.

Biosci Rep 2018 Dec 6. Epub 2018 Dec 6.

Laboratorio de Biología Celular y Molecular, IHEM-CONICET, Mendoza, Argentina

Hemin is an erythropoietic inductor capable of inducing autophagy in erythroid-like cell lines. Low densitylipoprotein receptor-related protein 1 (LRP1) is a transmembrane receptor involved in a wide range of cellular processes, such as proliferation, differentiation and metabolism. Our aim was to evaluate whether LRP1 is responsible for hemin activity in K562 cells, with the  results demonstrating a 3-fold increase in LRP1 gene expression levels ( values < 0. Read More

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December 2018

O-GlcNAc homeostasis contributes to cell fate decisions during hematopoiesis.

J Biol Chem 2018 Dec 6. Epub 2018 Dec 6.

University of Kansas Medical Center, United States.

The addition of a single β-D-N-acetylglucosamine sugar (O-GlcNAc) by O-GlcNAc transferase (OGT) and O-GlcNAc removal by O-GlcNAcase (OGA) maintain homeostatic O-GlcNAc levels on cellular proteins. Changes in protein O-GlcNAcylation regulate cellular differentiation and cell fate decisions, but how these changes affect erythropoiesis, an essential process in blood cell formation remains unclear. Here, we investigated the role of O-GlcNAcylation in erythropoiesis by using G1E-ER4 cells, which carry the erythroid-specific transcription factor GATA-binding protein 1 (GATA-1) fused to the estrogen receptor (GATA-1ER), and therefore undergo erythropoiesis after β-estradiol (E2) addition. Read More

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December 2018

Differential role of Kruppel like factor 1 (KLF1) gene in red blood cell disorders.

Genomics 2018 Dec 4. Epub 2018 Dec 4.

National Institute of Immunohematology (ICMR), 13th Floor, New Multi-storeyed Building, K.E.M. Hospital Campus, Parel, Mumbai 400012, India. Electronic address:

The master erythroid regulator KLF1,plays a pivotal role during erythroid lineage development by regulating the expression of many erythroid genes. Variations in the KLF1 gene are found to be associated with varied erythroid phenotypes. With the aim of determining the role of KLF1 gene variations in HbF induction and their genotype phenotype relationship, in this study, we screened 370 individuals with different hemoglobinopathy condition. Read More

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December 2018

Human bone marrow contains high levels of extracellular vesicles with a tissue-specific subtype distribution.

PLoS One 2018 6;13(12):e0207950. Epub 2018 Dec 6.

Gynecological Endocrinology and Reproductive Medicine, Medical University Innsbruck, Innsbruck, Austria.

Introduction: Extracellular vesicles (EV) are shed from a broad variety of cells and play an important role in activation of coagulation, cell to cell interaction and transport of membrane components. They are usually measured as circulating EV in peripheral blood (PB) and other body fluids. However, little is known about the distribution, presence and impact of EV and their subpopulations in bone marrow (BM). Read More

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December 2018
2 Reads

Afamelanotide in the Treatment of Dermatologic Disease

Skin Therapy Lett 2018 11;23(6):6-10

Department of Dermatology, Henry Ford Hospital, Detroit, MI, USA

Afamelanotide, an α-melanocyte stimulating hormone analogue, has become an emerging therapeutic option for a variety of skin conditions previously refractory to other treatments. Its efficacy has been demonstrated in several dermatologic conditions, including erythropoietic protoporphyria (EPP), solar urticaria, polymorphic light eruption (PMLE), vitiligo, acne, and Hailey-Hailey disease. Its relatively low risk side effect profile makes it an attractive treatment option and also paves the way for innovative use in other disorders. Read More

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November 2018
3 Reads

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Mol Genet Metab 2018 Nov 28. Epub 2018 Nov 28.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Porphyria Cutanea Tarda (PCT) is a cutaneous porphyria that results from the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absence or presence of an inherited heterozygous UROD mutation (PCT subtypes 1 and 2, respectively). A heterozygous UROD mutation causes half-normal levels of UROD activity systemically, which is a susceptibility factor but is not sufficient alone to cause type 2 PCT. In both Types 1 and 2 PCT, the cutaneous manifestations are precipitated by additional factors that lead to generation of an inhibitor that more profoundly reduces hepatic UROD activity. Read More

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November 2018
2 Reads

Iron, erythropoietin, and inflammation regulate hepcidin in Bmp2-deficient mice, but serum iron fails to induce hepcidin in Bmp6-deficient mice.

Am J Hematol 2018 Nov 27. Epub 2018 Nov 27.

Program in Membrane Biology, Division of Nephrology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

The bone morphogenetic protein (BMP)-SMAD signaling pathway is a key transcriptional regulator of hepcidin in response to tissue iron stores, serum iron, erythropoietic drive and inflammation to increase the iron supply when needed for erythropoiesis, but to prevent the toxicity of iron excess. Recently, BMP2 was reported to play a non-redundant role in hepcidin regulation in addition to BMP6. Here, we used a newly validated BMP2 ELISA assay and mice with a global or endothelial conditional knockout (CKO) of Bmp2 or Bmp6 to examine how BMP2 is regulated and functionally contributes to hepcidin regulation by its major stimuli. Read More

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November 2018
3 Reads

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Mol Genet Metab 2018 Aug 31. Epub 2018 Aug 31.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

The erythropoietic porphyrias are inborn errors of heme biosynthesis with prominent cutaneous manifestations. They include autosomal recessive Congenital Erythropoietic Porphyria (CEP) due to loss-of-function (LOF) mutations in the Uroporphyrinogen III Synthase (UROS) gene, Erythropoietic Protoporphyria (EPP) due to LOF mutations in the ferrochelatase (FECH) gene, and X-Linked Protoporphyria (XLP) due to gain-of-function mutations in the terminal exon of the Aminolevulinic Acid Synthase 2 (ALAS2) gene. During the 11-year period from 01/01/2007 through 12/31/2017, the Mount Sinai Porphyrias Diagnostic Laboratory provided molecular diagnostic testing for one or more of these disorders in 628 individuals, including 413 unrelated individuals. Read More

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August 2018
6 Reads

Contradictory effects of erythropoietin on inhibitory synaptic transmission in left and right prelimbic cortex of mice.

Neurobiol Stress 2018 Nov 28;9:113-123. Epub 2018 Aug 28.

Laboratory of Molecular Psychiatry, Department of Psychiatry, University of Münster, Germany.

Erythropoietin (EPO) has been shown to improve cognitive function in mammals as well as in patients of psychiatric diseases by directly acting on the brain. In addition, EPO attenuates the synaptic transmission and enhances short- and long-term synaptic plasticity in hippocampus of mice, although there are still many discrepancies between different studies. It has been suggested that the divergences of different studies take root in different application schemata or in long-term trophic effects of EPO. Read More

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November 2018
5 Reads

TREX1 D18N mice fail to process erythroblast DNA resulting in inflammation and dysfunctional erythropoiesis.

Autoimmunity 2018 Nov 13:1-12. Epub 2018 Nov 13.

a Department of Biochemistry , Center for Structural Biology, Wake Forest School of Medicine , Winston-Salem , NC , USA.

Anaemia is commonly observed in chronic inflammatory conditions, including systemic lupus erythematosus (SLE), where ∼50% of patients display clinical signs of anaemia. Mutation at the aspartate residue 18 of the three prime repair exonuclease 1 (TREX1) gene causes a monogenic form of cutaneous lupus in humans and the genetically precise TREX1 D18N mice recapitulate a lupus-like disease. TREX1 degrades single- and double-stranded DNA (dsDNA), and the link between failed DNA degradation by nucleases, including nucleoside-diphosphate kinases (NM23H1/H2) and Deoxyribonuclease II (DNase II), and anaemia prompted our studies to investigate whether TREX1 dysfunction contributes to anaemia. Read More

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November 2018
1 Read

Cellular Composition and Proliferation Levels in the Hematopoietic Tissue of Black Scorpionfish (Scorpaena porcus L.) Head Kidney and Spleen During the Spawning and Wintering Periods.

Anat Rec (Hoboken) 2018 Nov 12. Epub 2018 Nov 12.

Department of Animal Physiology and Biochemistry, Institute of Marine Biological Research Russian Academy of Sciences Leninsky ave 14, 119991, Moscow, Russian Federation.

To identify cells and analyze proliferative activity of hematopoietic tissue, black scorpionfish head kidney and spleen cells were characterized by light microscopy and flow cytometry. Hematopoiesis of black scorpionfish head kidney was formed by the following series: erythropoietic, granulopoietic, lymphopoietic, and thrombopoietic. Flow cytometric analysis allowed dividing blood cells in hematopoietic organs into subpopulations differing by size, granularity, and proliferative activity. Read More

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November 2018

Liver iron sensing and body iron homeostasis.

Blood 2018 Nov 6. Epub 2018 Nov 6.

Division of Nephrology, Program in Membrane Biology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States

The liver orchestrates systemic iron balance by producing and secreting hepcidin. Known as the iron hormone, hepcidin induces degradation of the iron exporter ferroportin to control iron entry into the bloodstream from dietary sources, iron recycling macrophages, and body stores. Under physiologic conditions, hepcidin production is reduced by iron deficiency and erythropoietic drive to increase the iron supply when needed to support red blood cell production and other essential functions. Read More

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November 2018
5 Reads

Iron homeostasis in pregnancy and spontaneous abortion.

Am J Hematol 2018 Nov 5. Epub 2018 Nov 5.

Department of Medicine, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California.

During pregnancy, iron requirements are increased to support maternal erythropoietic expansion and fetal growth and development. To meet these requirements, dietary iron absorption increases, and available iron stores are mobilized. These adjustments are thought to be in large part mediated by the iron-regulatory hormone hepcidin, which controls the concentrations of ferroportin, the sole exporter of iron into the extracellular fluid and blood plasma. Read More

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November 2018
7 Reads

Anaesthetic concerns in the patients with congenital erythropoietic porphyria for ocular surgery.

J Clin Anesth 2018 Oct 26;54:3-5. Epub 2018 Oct 26.

Dept. of Anaesthesiology, Pain Medicine and Critical care, All India Institute of Medical Sciences, New Delhi, India.

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October 2018

Copper deficiency-induced anemia is caused by a mitochondrial metabolic reprograming in erythropoietic cells.

Metallomics 2018 Oct 25. Epub 2018 Oct 25.

Institute of Biomedical Sciences, Faculty of Medicine and Faculty of Life Sciences, Universidad Andres Bello, 8370146, Santiago, Chile. and Millennium Institute on Immunology and Immunotherapy, 8331150, Santiago, Chile.

The lack of copper has been associated with anemia, myelodysplastic syndromes and leukemia as well as with a loss in complex IV activity and an enlarged mitochondrial morphology. Mitochondria play a key role during the differentiation of hematopoietic stem cells by regulating the passage from a glycolytic to oxidative metabolism. The former is associated with cell proliferation and the latter with cell differentiation. Read More

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October 2018
4 Reads

Shorter somatic telomere can be an increased risk for hospitalization.

Mol Cell Biochem 2018 Oct 23. Epub 2018 Oct 23.

The Department of Internal Medicine, Kyushu University Beppu Hospital, 4546 Tsurumihara, Beppu, Oita, 874-0838, Japan.

Somatic telomere DNA length is known to shorten with certain disease states and senescence. Furthermore, we have reported that the telomere length of a sub-healthy population also correlates with the blood data of laboratory tests. These facts suggest that patients with shorter telomere length tend to be hospitalized more easily than patients with longer telomere length. Read More

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October 2018

Maxillary sinus pain with radiolucent sinuses due to agenesis of the membranous ostium.

Eur Ann Otorhinolaryngol Head Neck Dis 2018 Oct 18. Epub 2018 Oct 18.

Service ORL et chirurgie cervico-faciale, hôpitaux de Brabois, centre hospitalier universitaire de Nancy, CHRU Nancy, rue du Morvan, 54511 Vandoeuvre-les-Nancy cedex, France.

Introduction: The absence of opacities on CT scan usually eliminates paranasal sinus disease as a cause of facial pain. The authors report a case, which constitutes an exception to this general rule, corresponding to a new aetiology of sinus pain.

Case Report: A 16-year-old boy presented with very painful "recurrent acute sinusitis" triggered by pressure changes (altitude, diving, surfing), with no sinus opacity on CT scan. Read More

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October 2018
5 Reads

Clinical experience with ferric carboxymaltose in the management of anemia in acute gastrointestinal bleeding.

Eur J Gastroenterol Hepatol 2019 01;31(1):116-122

Department of Gastroenterology, Arnau de Vilanova University Hospital.

Objective: The aim of this study was to assess the efficacy and safety of intravenous ferric carboxymaltose (FCM) following hospitalization for acute gastrointestinal bleeding (AGIB) in the context of a restrictive transfusion strategy.

Patients And Methods: A retrospective single-center study analyzed patients with AGIB (excluding AGIB secondary to portal hypertension) administered a single FCM dose with or without blood transfusion.

Results: Eighty-six episodes in 84 patients were analyzed. Read More

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January 2019
4 Reads

Evidence of Polygenic Adaptation to High Altitude from Tibetan and Sherpa Genomes.

Genome Biol Evol 2018 11 1;10(11):2919-2930. Epub 2018 Nov 1.

Laboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.

Although Tibetans and Sherpa present several physiological adjustments evolved to cope with selective pressures imposed by the high-altitude environment, especially hypobaric hypoxia, few selective sweeps at a limited number of hypoxia related genes were confirmed by multiple genomic studies. Nevertheless, variants at these loci were found to be associated only with downregulation of the erythropoietic cascade, which represents an indirect aspect of the considered adaptive phenotype. Accordingly, the genetic basis of Tibetan/Sherpa adaptive traits remains to be fully elucidated, in part due to limitations of selection scans implemented so far and mostly relying on the hard sweep model. Read More

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November 2018
8 Reads

[Porphyrias-what is verified?]

Internist (Berl) 2018 Dec;59(12):1239-1248

MVZ Labor PD Dr. Volkmann und Kollegen GbR, 76133, Karlsruhe, Deutschland.

Porphyrias are caused by enzyme defects of heme biosynthesis. According to their clinical presentation and to each affected pathway, they are categorized into acute and non-acute as well as hepatic and erythropoietic porphyrias. Acute hepatic porphyrias, e. Read More

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December 2018
8 Reads

Monocyte-derived macrophages expand the murine stress erythropoietic niche during the recovery from anemia.

Blood 2018 Dec 15;132(24):2580-2593. Epub 2018 Oct 15.

Pathobiology Graduate Program.

Anemic stress induces a physiological response that includes the rapid production of new erythrocytes. This process is referred to as stress erythropoiesis. It is best understood in the mouse where it is extramedullary and utilizes signals and progenitor cells that are distinct from bone marrow steady-state erythropoiesis. Read More

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December 2018
5 Reads

Porphyrias and photosensitivity: pathophysiology for the clinician.

Postgrad Med 2018 Nov 23;130(8):673-686. Epub 2018 Oct 23.

a Department of Internal Medicine , Nicosia General Hospital, University of Cyprus Medical School , Nicosia , Cyprus.

Porphyrias are disorders caused by defects in the biosynthetic pathway of heme. Their manifestations can be divided into three distinct syndromes, each attributable to the accumulation of three distinct classes of molecules. The acute neurovisceral syndrome is caused by the accumulation of the neurotoxic porphyrin precursors, delta aminolevulinic acid, and porphobilinogen; the syndrome of immediate painful photosensitivity is caused by the lipid-soluble protoporphyrin IX and, the syndrome of delayed blistering photosensitivity, caused by the water-soluble porphyrins, uroporphyrin, and coproporphyrin. Read More

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November 2018
7 Reads

Repeat whole blood donors with a ferritin level of 30 μg/L or less show functional iron depletion.

Transfusion 2018 Oct 6. Epub 2018 Oct 6.

Department of Clinical Chemistry, Isala Hospital, Zwolle, The Netherlands.

Background: Whole blood donors are screened for iron depletion through hemoglobin measurement alone or in combination with ferritin. Ferritin measurement gives the advantage of earlier detection of iron depletion. In a previous study we identified a ferritin level of 30 μg/L or less as a possible indicator of suboptimal erythropoiesis. Read More

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October 2018
4 Reads

Erythropoietic protoporphyria: A rare cause of painful hands and feet.

J Paediatr Child Health 2018 Oct 4. Epub 2018 Oct 4.

Neurology Department, Perth Children's Hospital, Perth, Western Australia, Australia.

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October 2018
1 Read

Generation of clinical-grade red blood cells from human umbilical cord blood mononuclear cells.

Cell Tissue Res 2018 Oct 3. Epub 2018 Oct 3.

Biological Material Laboratory, CSIR-Central Leather Research Institute, Adyar, Chennai, 600020, India.

A xeno-free method for ex vivo generation of red blood cells (RBCs) is attempted in order to replicate for large-scale production and clinical applications. An efficient milieu was formulated using injectable drugs substituting the animal-derived components in the culture medium. Unfractionated mononuclear cells isolated from human umbilical cord blood were used hypothesizing that the heterogeneous cell population could effectively contribute to erythroid cell generation. Read More

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October 2018
7 Reads

Anemia and Iron Deficiency in Cancer Patients: Role of Iron Replacement Therapy.

Pharmaceuticals (Basel) 2018 Sep 30;11(4). Epub 2018 Sep 30.

Department of Medicine, Section of Internal Medicine, University of Verona, and EuroBloodNet Referral Center for Iron Disorders, Azienda Ospedaliera Universitaria Integrata Verona, Policlinico G.B. Rossi, 37134 Verona, Italy.

Anemia in cancer patients is quite common, with remarkable negative impacts on quality of life and overall prognosis. The pathogenesis is complex and typically multifactorial, with iron deficiency (ID) often being a major and potentially treatable contributor. In turn, ID in cancer patients can be due to multiple concurring mechanisms, including bleeding (e. Read More

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September 2018
1 Read

Fyn kinase is a novel modulator of erythropoietin signaling and stress erythropoiesis.

Am J Hematol 2018 Sep 25. Epub 2018 Sep 25.

Department of Medicine, University of Verona, AOUI Verona, Verona, Italy.

The signaling cascade induced by the interaction of erythropoietin (EPO) with its receptor (EPO-R) is a key event of erythropoiesis. We present here data indicating that Fyn, a Src-family-kinase, participates in the EPO signaling-pathway, since Fyn mice exhibit reduced Tyr-phosphorylation of EPO-R and decreased STAT5-activity. The importance of Fyn in erythropoiesis is also supported by the blunted responsiveness of Fyn mice to stress erythropoiesis. Read More

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September 2018

Scleritis in congenital erythropoietic porphyria - infective or inflammatory?

Indian J Ophthalmol 2018 Oct;66(10):1467-1468

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

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October 2018
1 Read

Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.

Sci Transl Med 2018 Sep;10(459)

Protein Stability and Inherited Disease Laboratory, CIC bioGUNE, 48160 Derio, Spain.

Congenital erythropoietic porphyria is a rare autosomal recessive disease produced by deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the heme biosynthetic pathway. The disease affects many organs, can be life-threatening, and currently lacks curative treatments. Inherited mutations most commonly reduce the enzyme's stability, altering its homeostasis and ultimately blunting intracellular heme production. Read More

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September 2018
2 Reads

Characteristics of bone marrow cells in 107 patients with juvenile idiopathic arthritis: A retrospective study.

Exp Ther Med 2018 Oct 1;16(4):3161-3164. Epub 2018 Aug 1.

Department of Hematology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, P.R. China.

Few studies to date have reported on the myelodysplastic features of children with juvenile idiopathic arthritis (JIA). Bone marrow specimens were collected from 107 patients aged from 7-12 years who were initially diagnosed with JIA between May 2013 and October 2015. In 107 patients with JIA, bone marrow proliferation was higher than normal and hemophagocytes were more easily observed than usual. Read More

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October 2018

Comparison of gene expression profiles between human erythroid cells derived from fetal liver and adult peripheral blood.

PeerJ 2018 31;6:e5527. Epub 2018 Aug 31.

Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Background: A key event in human development is the establishment of erythropoietic progenitors in the bone marrow, which is accompanied by a fetal-to-adult switch in hemoglobin expression. Understanding of this event could lead to medical application, notably treatment of sickle cell disease and -thalassemia. The changes in gene expression of erythropoietic progenitor cells as they migrate from the fetal liver and colonize the bone marrow are still rather poorly understood, as primary fetal liver (FL) tissues are difficult to obtain. Read More

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August 2018
7 Reads

Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy.

Intern Med 2018 1;57(17):2505-2509. Epub 2018 Sep 1.

Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine, Japan.

A 27-year-old man bearing an erythropoietic protoporphyria (EPP)-associated ferrochelatase (FECH) mutation was admitted to our hospital for general malaise and marked elevation of the serum levels of hepatobiliary enzymes and bilirubin. Initial treatment with plasma exchange did not reduce the blood protoporphyrin or serum liver enzyme levels, so phlebotomy was started. Surprisingly, weekly phlebotomy normalized the serum levels of liver enzymes, accompanied by a marked reduction in the blood protoporphyrin levels. Read More

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November 2018
1 Read

Acquired erythropoietic uroporphyria and myelodysplastic syndrome cured by bone marrow transplantation.

Authors:
H de Verneuil

Br J Dermatol 2018 Aug;179(2):256-257

INSERM U1035, University of Bordeaux, 146 rue Léo Saignat, 33076, Bordeaux cedex, France.

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August 2018
4 Reads

Intestinal DMT1 Is Essential for Optimal Assimilation of Dietary Copper in Male and Female Mice with Iron-Deficiency Anemia.

J Nutr 2018 Aug;148(8):1244-1252

Departments of Food Science and Human Nutrition, University of Florida, Gainesville, FL.

Background: Divalent metal-ion transporter 1 (DMT1) may transport copper, but studies to date on this topic have been equivocal. Previously, an ex vivo experiment showed that intestinal copper transport was impaired in Dmt1-mutant Belgrade rats.

Objective: In this study, we tested the hypothesis that intestinal DMT1 transports copper in vivo. Read More

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August 2018
3 Reads

Erythropoietic effects of low-dose cobalt application.

Drug Test Anal 2018 Aug 15. Epub 2018 Aug 15.

Department of Sports Medicine/Sports Physiology, University of Bayreuth, Germany.

Cobaltous ions (Co ) stabilize HIFα, increase endogenous erythropoietin (EPO) production, and may, therefore, be used as a performance-enhancing substance. To date, the dosage necessary to stimulate erythropoiesis is unknown. The aim of this study was, therefore, to determine the minimum dosage necessary to increase erythropoietic processes. Read More

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Induced pluripotent stem cell-based mapping of β-globin expression throughout human erythropoietic development.

Blood Adv 2018 Aug;2(15):1998-2011

Section of Hematology and Medical Oncology, School of Medicine, Boston University, Boston, MA; and.

Robust β-globin expression in erythroid cells derived from induced pluripotent stem cells (iPSCs) increases the resolution with which red blood cell disorders such as sickle cell disease and β thalassemia can be modeled in vitro. To better quantify efforts in augmenting β-globin expression, we report the creation of a β-globin reporter iPSC line that allows for the mapping of β-globin expression throughout human erythropoietic development in real time at single-cell resolution. Coupling this tool with single-cell RNA sequencing (scRNAseq) identified features that distinguish β-globin-expressing cells and allowed for the dissection of the developmental and maturational statuses of iPSC-derived erythroid lineage cells. Read More

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August 2018
5 Reads

Modification of erythropoietin structure by N-homocysteinylation affects its antiapoptotic and proliferative functions.

FEBS J 2018 Oct 29;285(20):3801-3814. Epub 2018 Aug 29.

Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Instituto del Departamento de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN), Consejo Nacional de Investigaciones Científicas y Técnicas, Buenos Aires, Argentina.

Many patients under therapy with recombinant human erythropoietin (rhuEPO) show resistance to the treatment, an effect likely associated with the accumulation of tissue factors, especially in renal and cardiovascular diseases. Hyperhomocysteinemia due to high serum levels of homocysteine has been suggested among the risk factors in those pathologies. Its main effect is the N-homocysteinylation of proteins due to the interaction between the highly reactive homocysteine thiolactone (HTL) and lysine residues. Read More

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October 2018
3 Reads

Erythropoiesis and chronic kidney disease-related anemia: From physiology to new therapeutic advancements.

Med Res Rev 2018 Aug 6. Epub 2018 Aug 6.

Chair of Nephrology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Erythropoiesis is triggered by hypoxia and is strictly regulated by hormones, growth factors, cytokines, and vitamins to ensure an adequate oxygen delivery to all body cells. Abnormalities in one or more of these factors may induce different kinds of anemia requiring different treatments. A key player in red blood cell production is erythropoietin. Read More

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August 2018
8.431 Impact Factor

Personalized Anemia Management and Precision Medicine in ESA and Iron Pharmacology in End-Stage Kidney Disease.

Semin Nephrol 2018 07;38(4):410-417

Clinical Affairs, DaVita Kidney Care, Denver, CO.

Substantial progress has been made in the application of computer-driven methods to provide erythropoietic dosing information for patients with anemia resulting from chronic kidney disease. Initial solutions were simply computerized versions of traditional paper-based anemia management protocols. True personalization was achieved through the use of advanced modeling techniques such as artificial neural networks, physiologic models, and feedback control systems. Read More

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July 2018
16 Reads

Whole-Blood Transcriptional Signatures Composed of Erythropoietic and NRF2-Regulated Genes Differ Between Cerebral Malaria and Severe Malarial Anemia.

J Infect Dis 2019 Jan;219(1):154-164

Division of Infectious Diseases, Department of Medicine, Indiana University School of Medicine, Indianapolis.

Background: Among the severe malaria syndromes, severe malarial anemia (SMA) is the most common, whereas cerebral malaria (CM) is the most lethal. However, the mechanisms that lead to CM and SMA are unclear.

Methods: We compared transcriptomic profiles of whole blood obtained from Ugandan children with acute CM (n = 17) or SMA (n = 17) and community children without Plasmodium falciparum infection (n = 12) and determined the relationships among gene expression, hematological indices, and relevant plasma biomarkers. Read More

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January 2019
7 Reads

The role of ClpX in erythropoietic protoporphyria.

Hematol Transfus Cell Ther 2018 Apr-Jun;40(2):182-188. Epub 2018 Mar 28.

Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.

Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein. Disruption in the synthesis of these precursors accounts for a number of human blood disorders found in patients. Mutations in genes encoding heme biosynthesis enzymes are associated with a broad class of metabolic disorders called porphyrias. Read More

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March 2018
2 Reads

Diagnostic Delay in Erythropoietic Protoporphyria.

J Pediatr 2018 Nov 2;202:320-323.e2. Epub 2018 Jul 2.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:

Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack of awareness among pediatricians. We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of 129 affected individuals. Read More

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November 2018
1 Read

Erythropoietic regulators of iron metabolism.

Authors:
Tomas Ganz

Free Radic Biol Med 2018 Jul 5. Epub 2018 Jul 5.

Departments of Medicine and Pathology, David Geffen School of Medicine, UCLA, Los Angeles, USA. Electronic address:

Erythropoiesis is the predominant consumer of iron in humans and other vertebrates. By decreasing the transcription of the gene encoding the iron-regulatory hormone hepcidin, erythropoietic activity stimulates iron absorption, as well as the release of iron from recycling macrophages and from stores in hepatocytes. The main erythroid regulator of hepcidin is erythroferrone (ERFE), synthesized and secreted by erythroblasts in the marrow and extramedullary sites. Read More

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Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).

Mol Genet Metab 2018 Aug 13;124(4):287-296. Epub 2018 Jun 13.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, U.O. Medicina Generale, Italy.

Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3. Read More

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August 2018
8 Reads

Liver metabolomics in a mouse model of erythropoietic protoporphyria.

Biochem Pharmacol 2018 Aug 12;154:474-481. Epub 2018 Jun 12.

Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA 15261, USA. Electronic address:

Erythropoietic protoporphyria (EPP) is a genetic disease that results from the defective mutation in the gene encoding ferrochelatase (FECH), the enzyme that converts protoporphyrin IX (PPIX) to heme. Liver injury and even liver failure can occur in EPP patients because of PPIX accumulation in the liver. The current study profiled the liver metabolome in an EPP mouse model caused by a Fech mutation (Fech-mut). Read More

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August 2018
12 Reads

Circulating iron levels influence the regulation of hepcidin following stimulated erythropoiesis.

Haematologica 2018 Oct 14;103(10):1616-1626. Epub 2018 Jun 14.

Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Herston, Australia

The stimulation of erythrocyte formation increases the demand for iron by the bone marrow and this in turn may affect the levels of circulating diferric transferrin. As this molecule influences the production of the iron regulatory hormone hepcidin, we hypothesized that erythropoiesis-driven changes in diferric transferrin levels could contribute to the decrease in hepcidin observed following the administration of erythropoietin. To examine this, we treated mice with erythropoietin and examined diferric transferrin at various time points up to 18 hours. Read More

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October 2018
8 Reads

Unchanged Erythrocyte Profile After Exposure to Cryogenic Temperatures in Elder Marathon Runners.

Front Physiol 2018 30;9:659. Epub 2018 May 30.

Department of Sports Medicine and Human Nutrition, Faculty of Physical Education and Sport, University of Physical Education, Krakow, Poland.

Endurance runners may experience "sports anemia" resulting from intravascular hemolysis. In addition, aging has negative impact on hematopoiesis and rheological properties of blood, and erythrocyte membranes in older people are more vulnerable to oxidative damage, which together can lead to anemia. Whole-body cryostimulation (WBCST) is increasingly used in the elderly as a method of biological regeneration of athletes or therapy and preventive treatment. Read More

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May 2018
3 Reads

Carbamoylated erythropoietin modulates cognitive outcomes of social defeat and differentially regulates gene expression in the dorsal and ventral hippocampus.

Transl Psychiatry 2018 Jun 8;8(1):113. Epub 2018 Jun 8.

Division of basic Biomedical Sciences, Sanford School of Medicine, University of South Dakota, Vermillion, SD, 57069, USA.

Cognitive deficits are widespread in psychiatric disorders and frequently as debilitating as the affective component. Widely prescribed antidepressants for treating depressive disorders have limited efficacy in normalizing cognitive function. Erythropoietin (Epo) has been shown to improve cognitive function in schizophrenia and treatment resistant depressed patients. Read More

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June 2018
2 Reads

Poly(C)-Binding Protein Pcbp2 Enables Differentiation of Definitive Erythropoiesis by Directing Functional Splicing of the Runx1 Transcript.

Mol Cell Biol 2018 Aug 30;38(16). Epub 2018 Jul 30.

Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA

Formation of the mammalian hematopoietic system is under a complex set of developmental controls. Here, we report that mouse embryos lacking the KH domain poly(C) binding protein, Pcbp2, are selectively deficient in the definitive erythroid lineage. Compared to wild-type controls, transcript splicing analysis of the Pcbp2 embryonic liver reveals accentuated exclusion of an exon (exon 6) that encodes a highly conserved transcriptional control segment of the hematopoietic master regulator, Runx1. Read More

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August 2018
1 Read